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Gene Symbol | FANCA | ||||||||||
Synonyms | FA | FA-H | FA1 | FAA | FACA | FAH | FANCH | ||||||||||
Gene Description | FANCA, FA complementation group A, is a member of the Fanconi anemia (FA) nuclear complex, which plays a role in DNA repair (PMID: 11673408, PMID: 12509764, PMID: 30057198), and is required for nuclear localization of the FA core complex (PMID: 32002546). Germline FANCA mutations are associated with Fanconi anemia, which involves predisposition to various cancers (PMID: 12509764, PMID: 32235514, PMID: 29098742), including acute myeloid leukemia (PMID: 25455269) and ovarian high-grade serous carcinoma (PMID: 32019284), and loss of FANCA has been reported in prostate cancer (PMID: 31931827). | ||||||||||
|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FANCA A1097V | unknown | |
FANCA A181V | unknown | |
FANCA A403V | unknown | |
FANCA A40E | unknown | |
FANCA A412V | unknown | |
FANCA A444V | unknown | |
FANCA A47P | unknown | |
FANCA A586T | unknown | |
FANCA A733P | loss of function | |
FANCA A786V | unknown | |
FANCA A980G | unknown | |
FANCA amp | no effect | |
FANCA C422Y | unknown | |
FANCA C625S | unknown | |
FANCA D1359Y | loss of function | |
FANCA D598N | loss of function | |
FANCA D694Y | unknown | |
FANCA D931H | unknown | |
FANCA D944A | loss of function | |
FANCA D953E | unknown | |
FANCA del | loss of function | |
FANCA E1015* | loss of function - predicted | |
FANCA E1015K | unknown | |
FANCA E1115K | unknown | |
FANCA E1214Q | unknown | |
FANCA E1239_R1243del | loss of function | |
FANCA E1252K | unknown | |
FANCA E1351Q | unknown | |
FANCA E1394Gfs*31 | unknown | |
FANCA E288* | loss of function - predicted | |
FANCA E38K | unknown | |
FANCA E526Q | unknown | |
FANCA E542A | unknown | |
FANCA E682Q | unknown | |
FANCA E698K | unknown | |
FANCA E936G | loss of function | |
FANCA E936K | unknown | |
FANCA E966K | unknown | |
FANCA F1135del | loss of function | |
FANCA F1261L | unknown | |
FANCA F1262L | unknown | |
FANCA F1263del | loss of function | |
FANCA F320L | unknown | |
FANCA F476L | unknown | |
FANCA G1039D | unknown | |
FANCA G115R | unknown | |
FANCA G501S | unknown | |
FANCA G804S | unknown | |
FANCA G809D | unknown | |
FANCA H1110P | loss of function | |
FANCA H1355L | unknown | |
FANCA H1417D | no effect - predicted | |
FANCA H492R | loss of function | |
FANCA H913P | loss of function - predicted | |
FANCA I1300M | unknown | |
FANCA inact mut | loss of function | |
CHEK2 inact mut FANCA inact mut PTEN inact mut | ||
FANCA K1283R | unknown | |
FANCA K143N | unknown | |
FANCA K453N | unknown | |
FANCA K522R | unknown | |
FANCA L1075P | unknown | |
FANCA L1082F | unknown | |
FANCA L1082P | loss of function - predicted | |
FANCA L1083del | loss of function | |
FANCA L1181P | loss of function | |
FANCA L1211I | unknown | |
FANCA L1249V | unknown | |
FANCA L1256Hfs*11 | loss of function | |
FANCA L1305F | loss of function | |
FANCA L1320del | unknown | |
FANCA L1401V | unknown | |
FANCA L185I | unknown | |
FANCA L210R | loss of function | |
FANCA L274P | loss of function | |
FANCA L278R | loss of function | |
FANCA L424V | no effect - predicted | |
FANCA L51M | unknown | |
FANCA L72Cfs*6 | loss of function - predicted | |
FANCA L72fs | loss of function - predicted | |
FANCA L784Ffs*10 | loss of function - predicted | |
FANCA L817P | loss of function | |
FANCA L845P | loss of function | |
FANCA L864I | unknown | |
FANCA L908P | unknown | |
FANCA L946P | loss of function | |
FANCA loss | loss of function | |
FANCA M1024fs | loss of function - predicted | |
FANCA M1024Ifs*4 | loss of function - predicted | |
FANCA M1077I | unknown | |
FANCA M1360I | loss of function | |
FANCA M160I | unknown | |
FANCA M1? | loss of function | |
FANCA M717I | unknown | |
FANCA mutant | unknown | |
FANCA N1003H | unknown | |
FANCA P1175L | unknown | |
FANCA P1222L | unknown | |
FANCA P1324L | loss of function | |
FANCA P496S | unknown | |
FANCA P497L | unknown | |
FANCA P497S | loss of function | |
FANCA P500A | unknown | |
FANCA P615fs | loss of function - predicted | |
FANCA P643A | unknown | |
FANCA P774R | unknown | |
FANCA P808S | unknown | |
FANCA Q1099H | no effect | |
FANCA Q1128E | loss of function | |
FANCA Q1307Sfs*6 | unknown | |
FANCA Q168E | unknown | |
FANCA Q174H | unknown | |
FANCA Q226H | unknown | |
FANCA Q286Rfs*10 | loss of function - predicted | |
FANCA Q326* | loss of function - predicted | |
FANCA Q343* | loss of function - predicted | |
FANCA Q382E | unknown | |
FANCA Q382H | unknown | |
FANCA Q436R | loss of function | |
FANCA Q772* | loss of function | |
FANCA Q772fs | loss of function - predicted | |
FANCA Q772Rfs*5 | loss of function - predicted | |
FANCA Q869* | loss of function - predicted | |
FANCA Q869_F870del | loss of function | |
FANCA Q99* | loss of function | |
FANCA Q993* | loss of function - predicted | |
FANCA R1011H | unknown | |
FANCA R1053C | unknown | |
FANCA R1054* | loss of function - predicted | |
FANCA R1055G | unknown | |
FANCA R1055L | loss of function | |
FANCA R1055W | loss of function | |
FANCA R1084C | unknown | |
FANCA R1117G | loss of function | |
FANCA R1186K | unknown | |
FANCA R1186M | unknown | |
FANCA R1204W | unknown | |
FANCA R1400H | loss of function | |
FANCA R1425C | unknown | |
FANCA R163H | unknown | |
FANCA R435C | loss of function | |
FANCA R435H | loss of function | |
FANCA R435L | loss of function | |
FANCA R52* | loss of function - predicted | |
FANCA R52L | unknown | |
FANCA R52P | unknown | |
FANCA R683I | unknown | |
FANCA R685K | unknown | |
FANCA R756C | loss of function - predicted | |
FANCA R880Q | unknown | |
FANCA R917* | loss of function - predicted | |
FANCA R951Q | loss of function - predicted | |
FANCA R951W | loss of function | |
FANCA S1088F | unknown | |
FANCA S1094G | unknown | |
FANCA S1264Y | unknown | |
FANCA S1416L | unknown | |
FANCA S367I | loss of function | |
FANCA S421N | unknown | |
FANCA S455F | unknown | |
FANCA S46P | unknown | |
FANCA S545I | unknown | |
FANCA S616Y | unknown | |
FANCA S734F | unknown | |
FANCA S858R | loss of function - predicted | |
FANCA S892F | unknown | |
FANCA T1131A | unknown | |
FANCA T1161M | unknown | |
FANCA T1328A | no effect | |
FANCA T256I | unknown | |
FANCA T266A | unknown | |
FANCA T266M | unknown | |
FANCA T949N | unknown | |
FANCA V1112F | unknown | |
FANCA V1112G | loss of function | |
FANCA V1180L | unknown | |
FANCA V1418M | no effect | |
FANCA V230I | no effect | |
FANCA V372Afs*42 | loss of function - predicted | |
FANCA V372fs | loss of function - predicted | |
FANCA V378I | loss of function | |
FANCA V580M | unknown | |
FANCA V677M | unknown | |
FANCA V697I | no effect | |
FANCA V6D | no effect | |
FANCA V888I | unknown | |
FANCA W1174del | loss of function | |
FANCA W1224S | loss of function | |
FANCA W1302R | loss of function | |
FANCA W183A | loss of function | |
FANCA W911fs | loss of function - predicted | |
FANCA W911Sfs*11 | loss of function - predicted | |
FANCA W957G | loss of function | |
FANCA wild-type | no effect | |
FANCA Y448C | loss of function | |
FANCA Y510C | loss of function |